Results 61 to 70 of about 2,852 (190)

Seizures as an Atypical Feature of Beal’s Syndrome

Sultan Qaboos University Medical Journal, 2016
Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23.
Nazreen B. K. Jaman, Abeer Al-Sayegh
doaj   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

, 2014
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis.
Temtamy, Samia, Otaify, Ghada A, Aglan, Mona S, Antonarakis, Stylianos, Makrythanasis, Periklis   +4 more
core   +1 more source

Loeys‐Dietz Syndrome and Asthma: Pathophysiological Insights and Clinical Dilemmas

Respirology Case Reports, Volume 13, Issue 8, August 2025.
We present a case of acute severe asthma in a young adult with Loeys‐Dietz syndrome, complicated by cardiovascular comorbidities. This case highlights the high prevalence and severity of asthma in LDS, the risks of delayed treatment and the importance of balancing bronchodilator therapy against vascular complications.
Ella Brockwell‐Mole, John D. Blakey, Vidya V. Navaratnam   +2 more
wiley   +1 more source

A CASE OF BEALS' SYNDROME (CONGENİTAL CONTRACTURAL ARACHNODACTYLY)

, 1998
BEALS' SYNDROME, ALSO KNOWN AS CONGENİTAL CONTRACTURAL ARACHNODACTYLY, IS A RECENT RECOGNİZED DİSORDER CHARACTERİZED BY MULTİPLE JOİNT ...
Akçoral, Adnan, KARAOĞLAN, OSMAN, ÖZKAN, HASAN, ÖREN, HALE, ÖREN, Bahattin, ALICI, EMİN   +5 more
core  

Congenital contractural arachnodactyly Síndrome de la arcnodactilia contractural: estudio de un caso esporádico y revisión de la literatura

Iatreia, 1991
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The Congenital Contractural Arachnodactyly Syndrome is a heredltary disorder of connective tissue characterized by multiple congenital contractures, arachnodactyly ...
Betty Nishikuni, Amanda Mejía, José Luis Ramírez Castro   +2 more
doaj  

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

Egyptian Journal of Medical Human Genetics, 2017
We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly [PDF]

, 2016
BackgroundCongenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide.
Yun Chen, Qinzhao Yuan, Yu, Baofeng, Jinjie Xue, Shi, Yaping, Xie, Jun, Yaping Shi, Chunying Song, Guo, Xingping, Huaixiu Wang, Yanan Yuan, Xinmin Li, Meng, Weijing, Qi, Lixin, Jun Xie, Yunxia Liang, Baofeng Yu, Li, Hongxia, Xingping Guo, Liang, Yunxia, Song, Chunying, Yuan, Yanan, Wang, Huaixiu, Xue, Jinjie, Chen, Yun, Li, Xinmin, Weijing Meng, Yuan, Qinzhao, Hongxia Li, Lixin Qi   +29 more
core   +1 more source

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations

Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2.
Zongzhe Li (289169), Shulin Yang (76751)
core   +1 more source

Minor physical anomalies in neurodevelopmental disorders: a twin study

Child and Adolescent Psychiatry and Mental Health, 2017
Background Minor physical anomalies (MPAs) are subtle anatomical deviations in one’s appearance and may suggest altered embryogenesis. MPAs have been shown to be more common in neurodevelopmental disorders (NDDs) compared with typical development. Still,
Lynnea Myers, Britt-Marie Anderlid, Ann Nordgren, Charlotte Willfors, Ralf Kuja-Halkola, Kristiina Tammimies, Sven Bölte   +6 more
doaj   +1 more source